Related MeSH Hierarchy (4)
Diseases [C] » Nervous System Diseases [C10] » Nervous System Malformations » Malformations of Cortical Development » Malformations of Cortical Development, Group II » Lissencephaly » Cobblestone Lissencephaly » Walker-Warburg Syndrome
Diseases [C] » Eye Diseases [C11] » Eye Diseases, Hereditary » Walker-Warburg Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Nervous System Malformations » Malformations of Cortical Development » Malformations of Cortical Development, Group II » Lissencephaly » Cobblestone Lissencephaly » Walker-Warburg Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Muscular Dystrophies » Walker-Warburg Syndrome
Description
Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development. MeSH
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